Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.209638527_209638532del | CA528653129 | LAMB3 | c.298+3_298+8del (n.298+3_298+8del) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.209638532A= | CA2484304453 | LAMB3 | c.298+2T= (n.298+2T=) | |
1 | g.209638532A>C | CA344597505 | LAMB3 | c.298+2T>G (n.298+2T>G) | COSMIC |
1 | g.209638532A>G | CA16040709 | LAMB3 | c.298+2T>C (n.298+2T>C) | ClinVar dbSNP gnomAD v4 |
1 | g.209638532A>T | CA344597507 | LAMB3 | c.298+2T>A (n.298+2T>A) | |
1 | g.209638533C>A | CA344597509 | LAMB3 | c.298+1G>T (n.298+1G>T) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.209638533C= | CA2484304454 | LAMB3 | c.298+1G= (n.298+1G=) | |
1 | g.209638533C>G | CA344597513 | LAMB3 | c.298+1G>C (n.298+1G>C) | |
1 | g.209638533C>T | CA344597511 | LAMB3 | c.298+1G>A (n.298+1G>A) | ClinVar gnomAD v4 |
1 | g.209638534C>A | CA344597516 | LAMB3 | c.298G>T (p.Asp100Tyr) | dbSNP COSMIC |
1 | g.209638534C= | CA2484304455 | LAMB3 | c.298G= (p.Asp100=) | |
1 | g.209638534C>G | CA344597520 | LAMB3 | c.298G>C (p.Asp100His) | |
1 | g.209638534C>T | CA344597517 | LAMB3 | c.298G>A (p.Asp100Asn) | |
1 | g.209638535A>C | CA344597522 | LAMB3 | c.297T>G (p.Asn99Lys) | |
1 | g.209638535A>G | CA423032944 | LAMB3 | c.297T>C (p.Asn99=) | |
1 | g.209638535A>T | CA344597523 | LAMB3 | c.297T>A (p.Asn99Lys) | |
1 | g.209638536T>A | CA344597526 | LAMB3 | c.296A>T (p.Asn99Ile) | |
1 | g.209638536T>C | CA344597529 | LAMB3 | c.296A>G (p.Asn99Ser) | |
1 | g.209638536T>G | CA344597528 | LAMB3 | c.296A>C (p.Asn99Thr) | |
1 | g.209638537T>A | CA344597532 | LAMB3 | c.295A>T (p.Asn99Tyr) | |
1 | g.209638537T>C | CA344597533 | LAMB3 | c.295A>G (p.Asn99Asp) | |
1 | g.209638537T>G | CA344597535 | LAMB3 | c.295A>C (p.Asn99His) | |
1 | g.209638538C>A | CA344597538 | LAMB3 | c.294G>T (p.Gln98His) | |
1 | g.209638538C= | CA2484304456 | LAMB3 | c.294G= (p.Gln98=) | |
1 | g.209638538C>G | CA344597540 | LAMB3 | c.294G>C (p.Gln98His) | |
1 | g.209638538C>T | CA423032945 | LAMB3 | c.294G>A (p.Gln98=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209638539T>A | CA344597542 | LAMB3 | c.293A>T (p.Gln98Leu) | |
1 | g.209638539T>C | CA344597544 | LAMB3 | c.293A>G (p.Gln98Arg) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.209638539T>G | CA344597545 | LAMB3 | c.293A>C (p.Gln98Pro) | |
1 | g.209638539T= | CA2484304457 | LAMB3 | c.293A= (p.Gln98=) | |
1 | g.209638540G>A | CA344597548 | LAMB3 | c.292C>T (p.Gln98Ter) | |
1 | g.209638540G>C | CA344597549 | LAMB3 | c.292C>G (p.Gln98Glu) | |
1 | g.209638540G>T | CA344597551 | LAMB3 | c.292C>A (p.Gln98Lys) | gnomAD v4 COSMIC |
1 | g.209638541del | CA2650323712 | LAMB3 | c.291del (p.Gln98ArgfsTer4) | gnomAD v4 |
1 | g.209638541T>A | CA423032947 | LAMB3 | c.291A>T (p.Ser97=) | ClinVar dbSNP gnomAD v4 |
1 | g.209638541T>C | CA423032946 | LAMB3 | c.291A>G (p.Ser97=) | dbSNP |
1 | g.209638541T>G | CA1376048 | LAMB3 | c.291A>C (p.Ser97=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209638541T= | CA1139912116 | LAMB3 | c.291A= (p.Ser97=) | |
1 | g.209638542G>A | CA344597558 | LAMB3 | c.290C>T (p.Ser97Leu) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.209638542G>C | CA344597554 | LAMB3 | c.290C>G (p.Ser97Ter) | |
1 | g.209638542G= | CA2484304458 | LAMB3 | c.290C= (p.Ser97=) | |
1 | g.209638542G>T | CA344597556 | LAMB3 | c.290C>A (p.Ser97Ter) | gnomAD v4 |
1 | g.209638543A>C | CA344597560 | LAMB3 | c.289T>G (p.Ser97Ala) | |
1 | g.209638543A>G | CA344597562 | LAMB3 | c.289T>C (p.Ser97Pro) | |
1 | g.209638543A>T | CA344597564 | LAMB3 | c.289T>A (p.Ser97Thr) | |
1 | g.209638544C>A | CA344597566 | LAMB3 | c.288G>T (p.Gln96His) | |
1 | g.209638544C>G | CA344597568 | LAMB3 | c.288G>C (p.Gln96His) | |
1 | g.209638544C>T | CA423032948 | LAMB3 | c.288G>A (p.Gln96=) | gnomAD v4 |
1 | g.209638545T>A | CA344597571 | LAMB3 | c.287A>T (p.Gln96Leu) | |
1 | g.209638545T>C | CA344597573 | LAMB3 | c.287A>G (p.Gln96Arg) |